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Prof Fernando Larcher

Institution(s): CIEMAT-CIBERER /University Carlos III, MAdrid

Research focus: Advanced therapies for genodermatoses. Mechanisms of fibrosis.

What are your own areas of research, and what insights do these give you on EB? 

Our team is currently focused on the development and evaluation of advanced therapies (combined cell and gene therapy) for EB in pre-clinical and clinical settings. We are particularly interested in increasing the efficacy and precision of gene editing approaches. Also, part of my team is interested in understanding the mechanisms leading to fibrosis/cancer in recessive dystrophic EB. 

Where do you see the biggest contributions research can make to improving options for people with EB? 

Today, we are achieving a significant degree of refinement and efficacy in strategies to correct genetic defects (e.g. genome editing) for EB. However, there is room for improvement here and a concommitant need for research to accomplish this. In addition, I think it would be important to put more research effort to move from ex vivo (valid, of course) to in vivo gene therapy approaches, being able to bring genetic correction tools directly to the skin of patients. Therefore, it is important to investigate new delivery systems (viral and non-viral). Also, I think it is important to explore ways of grafting genetically corrected autologous cells with minimmally invasive techniques (e.g. cell spray).

Another important area of ​​research, for RDEB, is focused on finding effective therapies to reduce fibrosis and cancer. A better understanding of the underlying mechanisms is also essential.

Specifically in the area of ​​cancer, I would like to see research on other emerging therapies such a CAR-T cells (targeting RDEB carcinomas).

What are the current most urgent research questions, both in basic knowledge and translational research? 

 If I had to do a ranking of the most important research needs, I think first it would be to find targetable biomarkers to tackle, pharmacologically, fibrosis and cancer development in RDEB in young patients. That requires a comprhensive understanding of the mechanisms, something that has not yet been achieved.

DEBRA and EB Resnet members are grateful for your dedication to helping people with EB; what do you find rewarding about being a member of EB Expert Panel? 

I think it is very rewarding to be able to be in touch with the variety of scientific ideas and proposals from across the EB field community (and sometimes from people working on other disciplines) and to discuss them enthusiastically with peers that encompass a large part of EB knowledge.

Portrait Prof. Fernando Larcher

Prof Fernando Larcher

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